Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

10.5K
In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
10.5K
Next-generation Sequencing03:00

Next-generation Sequencing

87.9K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
87.9K
RNA-seq03:21

RNA-seq

9.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.4K
Sanger Sequencing01:57

Sanger Sequencing

800.8K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
800.8K
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

16.7K
The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
16.7K
Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

3.3K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Benchmarking genetic birth prevalence estimates against newborn screening data.

American journal of human genetics·2026
Same author

Evidence of survival bias in the association between <i>APOE-Є4</i> and age at ischemic stroke onset.

Frontiers in genetics·2024
Same author

Evidence of survival bias in the association between <i>APOE-ϵ4</i> and age of ischemic stroke onset.

medRxiv : the preprint server for health sciences·2023
Same author

Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease.

Nature protocols·2023
Same author

Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of <i>MUC5B</i> and <i>DSP</i> in Idiopathic Pulmonary Fibrosis.

American journal of respiratory and critical care medicine·2022
Same author

Response to comment on "Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics".

Science translational medicine·2021

Related Experiment Video

Updated: May 1, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

14.6K

Association claims in the sequencing era.

Sara L Pulit1, Maarten Leusink2, Androniki Menelaou3

  • 1Department of Medical Genetics, Institute for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands. s.l.pulit@umcutrecht.nl.

Genes
|April 8, 2014
PubMed
Summary

Advances in DNA sequencing offer insights into human genetics but lack standardized data processing. This hinders identifying disease variants in complex genetic traits, leading to irreproducible research findings.

More Related Videos

Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K
Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

7.7K

Related Experiment Videos

Last Updated: May 1, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

14.6K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

6.2K
Novel Sequence Discovery by Subtractive Genomics
09:40

Novel Sequence Discovery by Subtractive Genomics

Published on: January 25, 2019

7.7K

Area of Science:

  • Human genetics
  • Genomic data analysis
  • Disease variant identification

Background:

  • The Human Genome Project spurred advances in studying DNA sequence variation.
  • Genome-wide association studies (GWAS) benefited from statistical standards.
  • Sequencing data processing and interpretation currently lack globally applied standards.

Purpose of the Study:

  • To address challenges in processing and interpreting sequencing data.
  • To identify factors contributing to irreproducible association claims in scientific literature.
  • To propose steps for cultural change in genomic data analysis.

Main Methods:

  • Review of current practices in human genetics research.
  • Analysis of factors affecting the reproducibility of sequencing data interpretation.
  • Discussion of potential solutions and cultural shifts.

Main Results:

  • Lack of standardized methods for processing and interpreting sequencing data.
  • Difficulties in unequivocally pinpointing disease variants in polygenic traits.
  • Identification of contributing factors to irreproducible association claims.

Conclusions:

  • Standardization of sequencing data processing is crucial for reliable genetic research.
  • Addressing current challenges is necessary to improve the reproducibility of findings in human genetics.
  • A cultural shift towards standardized practices is needed to advance the field.